CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease

Authors: Jones D.C.1; Gelder2 C.M.1; Ahmad T.2; Campbell I.A.3; Barnardo M.C.N.M.1; Welsh K.I.1; Marshall S.E.1; Bunce M.1

Source: Tissue Antigens, Volume 58, Number 1, July 2001 , pp. 19-23(5)

Publisher: Wiley-Blackwell

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Abstract:

Abstract:

Mycobacterium malmoense is an opportunistic mycobacterium that occasionally causes disease in non-immunosuppressed individuals. As only a few individuals exposed to these organisms actually develop clinical disease, it is possible there is a genetic component to susceptibility. CD1 molecules are capable of presenting antigens from more virulent mycobacteria to T cells; therefore, we were interested in discovering whether recently described polymorphisms in CD1 molecules modulated susceptibility to M. malmoense pulmonary disease. The CD1 system comprises five genes (CD1A, -B, -C, -D, and -E) located on chromosome 1 (1q22–23). CD1 molecules are structurally and functionally related to major histocompatibility complex (MHC) class I molecules and are expressed on dedicated antigen-presenting cells. The primary function of CD1 molecules is to present lipid and glycolipid antigens to T cells. We have developed an allele-specific polymerase chain reaction-sequence-specific primer (PCR-SSP) method of CD1 genotyping. Using this method, we compared the allele and haplotype frequencies of CD1 in 49 HIV-negative patients with M. malmoense pulmonary disease with those in 342 normal controls. The CD1A and CD1E alleles were nominally identified as CD1A*01, CD1A*02, CD1E*01 and CD1E*02, and the control gene frequencies were found to be 5%, 95%, 67% and 33%, respectively. No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; khgr2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; khgr2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.

Keywords: CD1 genotype; Mycobacterium malmoense; PCR-SSP; polymorphism; pulmonary disease

Language: English

Document Type: Original article

DOI: http://dx.doi.org/10.1034/j.1399-0039.2001.580103.x

Affiliations: 1: Transplantation Immunology, Oxford Transplant Centre, Churchill Hospital, Oxford, UK, 2: Dept. of Gastroenterology, Radcliffe Infirmary, Oxford, UK, 3: Llandough Hospital, Penarth, South Glamorgan, Wales *

Publication date: 2001-07-01

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